Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AAAS 0 genome.wustl.edu 37 12 53708115 53708115 + Missense_Mutation SNP A A G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 12 53708115 53708115 A G SNP AAAS ENST00000209873 human ensembl 69_37n -1 known missense c.656 p.I219T 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 86 0 0.00 52 17 24.64 - - - AADAT 0 genome.wustl.edu 37 4 170988516 170988516 + Silent SNP G G A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 4 170988516 170988516 G A SNP AADAT ENST00000509167 human ensembl 69_37n -1 known silent c.936 p.H312 0.836 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC ENSG00000109576 85 0 0.00 90 23 20.35 - - - ABCB8 0 genome.wustl.edu 37 7 150742383 150742384 + Frame_Shift_Ins INS - - C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 7 150742383 150742384 - C INS ABCB8 ENST00000297504 human ensembl 69_37n +1 known frame_shift_ins c.2155_2156 p.P721fs 0.000:0.001 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB8 HGNC ENSG00000197150 29 0 0.00 22 4 15.38 - - - ACTL6B 0 genome.wustl.edu 37 7 100245130 100245131 + Frame_Shift_Ins INS - - G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 7 100245130 100245131 - G INS ACTL6B ENST00000160382 human ensembl 69_37n -1 known frame_shift_ins c.696_695 p.N233fs 1.000:1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 13 0 0.00 9 4 30.77 - - - ATP9B 0 genome.wustl.edu 37 18 77137328 77137328 + Missense_Mutation SNP T T G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 18 77137328 77137328 T G SNP ATP9B ENST00000426216 human ensembl 69_37n +1 known missense c.3389 p.L1130R 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9B HGNC ENSG00000166377 43 0 0.00 25 10 28.57 - - - BOP1 0 genome.wustl.edu 37 8 145512978 145512979 + Frame_Shift_Ins INS - - G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 8 145512978 145512979 - G INS BOP1 ENST00000307404 human ensembl 69_37n -1 known frame_shift_ins c.107_106 p.L36fs 0.008:0.001 NULL pfam_BOP1_N_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BOP1 HGNC ENSG00000170727 19 0 0.00 17 2 10.53 - - - C3orf43 0 genome.wustl.edu 37 3 196234930 196234930 + Missense_Mutation SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 196234930 196234930 C T SNP C3orf43 ENST00000397537 human ensembl 69_37n -1 known missense c.473 p.R158K 0.146 NULL NULL - no_errors C3orf43 HGNC ENSG00000214097 183 0 0.00 111 22 16.54 - - - CBX2 0 genome.wustl.edu 37 17 77758219 77758220 + Frame_Shift_Ins INS - - C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 17 77758219 77758220 - C INS CBX2 ENST00000310942 human ensembl 69_37n +1 known frame_shift_ins c.977_978 p.H329fs 0.033:0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX2 HGNC ENSG00000173894 12 0 0.00 4 2 33.33 - - - CCDC48 0 genome.wustl.edu 37 3 128753127 128753128 + Frame_Shift_Ins INS - - A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 128753127 128753128 - A INS CCDC48 ENST00000436022 human ensembl 69_37n +1 known frame_shift_ins c.93_94 p.T31fs 0.023:0.020 NULL NULL - no_errors CCDC48 HGNC ENSG00000114654 30 0 0.00 14 10 41.67 - - - CDH24 0 genome.wustl.edu 37 14 23523727 23523728 + Frame_Shift_Ins INS - - G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 14 23523727 23523728 - G INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.772_771 p.K257fs 1.000:1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 29 0 0.00 17 5 22.73 - - - CSAD 0 genome.wustl.edu 37 12 53552403 53552403 + Missense_Mutation SNP G G A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 12 53552403 53552403 G A SNP CSAD ENST00000379850 human ensembl 69_37n -1 novel missense c.1450 p.R484W 0.061 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSAD HGNC ENSG00000139631 35 0 0.00 18 10 35.71 - - - CTNNA2 0 genome.wustl.edu 37 2 80773103 80773103 + Frame_Shift_Del DEL C C - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 2 80773103 80773103 C - DEL CTNNA2 ENST00000361291 human ensembl 69_37n +1 known frame_shift_del c.1557 p.F519fs 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 62 0 0.00 39 52 55.32 - - - EDDM3A 0 genome.wustl.edu 37 14 21216114 21216114 + Missense_Mutation SNP C C A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 14 21216114 21216114 C A SNP EDDM3A ENST00000326842 human ensembl 69_37n +1 known missense c.375 p.F125L 0.315 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 160 0 0.00 108 16 12.90 - - - ENPP7 0 genome.wustl.edu 37 17 77709202 77709203 + Frame_Shift_Ins INS - - CC TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 17 77709202 77709203 - CC INS ENPP7 ENST00000328313 human ensembl 69_37n +1 known frame_shift_ins c.760_761 p.K254fs 0.544:0.531 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 38 0 0.00 37 19 33.93 - - - GDAP1 0 genome.wustl.edu 37 8 75276444 75276444 + Missense_Mutation SNP A A G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 8 75276444 75276444 A G SNP GDAP1 ENST00000220822 human ensembl 69_37n +1 known missense c.919 p.T307A 1.000 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 140 1 0.71 241 34 12.36 - - - GPR101 0 genome.wustl.edu 37 X 136112380 136112380 + Missense_Mutation SNP G G C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 X 136112380 136112380 G C SNP GPR101 ENST00000298110 human ensembl 69_37n -1 known missense c.1454 p.P485R 0.873 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 173 0 0.00 114 63 35.59 - - - GYLTL1B 0 genome.wustl.edu 37 11 45948372 45948373 + Frame_Shift_Ins INS - - C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 11 45948372 45948373 - C INS GYLTL1B ENST00000325468 human ensembl 69_37n +1 known frame_shift_ins c.1275_1276 p.R427fs 0.002:0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 18 0 0.00 10 2 16.67 - - - HHEX 0 genome.wustl.edu 37 10 94454508 94454509 + Frame_Shift_Ins INS - - CC TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 10 94454508 94454509 - CC INS HHEX ENST00000282728 human ensembl 69_37n +1 known frame_shift_ins c.796_797 p.Y266fs 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HHEX HGNC ENSG00000152804 84 0 0.00 60 55 47.83 - - - HIPK2 0 genome.wustl.edu 37 7 139281654 139281654 + Frame_Shift_Del DEL A A - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 7 139281654 139281654 A - DEL HIPK2 ENST00000406875 human ensembl 69_37n -1 known frame_shift_del c.2526 p.C842fs 0.991 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 60 0 0.00 32 14 30.43 - - - KIAA0195 0 genome.wustl.edu 37 17 73487171 73487172 + Frame_Shift_Ins INS - - G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 17 73487171 73487172 - G INS KIAA0195 ENST00000314256 human ensembl 69_37n +1 known frame_shift_ins c.1170_1171 p.T392fs 0.998:0.997 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 19 0 0.00 17 2 10.53 - - - LAMB2 0 genome.wustl.edu 37 3 49158663 49158663 + Missense_Mutation SNP T T A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 49158663 49158663 T A SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.5393 p.Q1798L 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 19 0 0.00 13 5 26.32 - - - LEKR1 0 genome.wustl.edu 37 3 156763225 156763225 + Frame_Shift_Del DEL A A - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 156763225 156763225 A - DEL LEKR1 ENST00000356539 human ensembl 69_37n +1 known frame_shift_del c.1765 p.S589fs 0.968 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 196 0 0.00 66 81 54.00 - - - MAP3K1 0 genome.wustl.edu 37 5 56178399 56178400 + Frame_Shift_Ins INS - - T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 5 56178399 56178400 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3372_3373 p.N1124fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 224 0 0.00 90 31 25.62 - - - MAP3K1 0 genome.wustl.edu 37 5 56178400 56178400 + Missense_Mutation SNP A A G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 5 56178400 56178400 A G SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel missense c.3373 p.N1125D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 226 0 0.00 89 35 28.23 - - - MAP3K1 0 genome.wustl.edu 37 5 56189387 56189387 + Frame_Shift_Del DEL C C - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 5 56189387 56189387 C - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.4419 p.P1474fs 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 102 0 0.00 76 27 26.21 - - - MLL3 0 genome.wustl.edu 37 7 151904386 151904386 + Silent SNP T T C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 7 151904386 151904386 T C SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known silent c.3840 p.P1280 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 488 0 0.00 176 134 43.23 - - - MUC6 0 genome.wustl.edu 37 11 1016078 1016079 + Frame_Shift_Ins INS - - G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 11 1016078 1016079 - G INS MUC6 ENST00000421673 human ensembl 69_37n -1 known frame_shift_ins c.6723_6722 p.A2242fs 0.000:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 21 0 0.00 21 11 34.38 - - - MYCBP2 0 genome.wustl.edu 37 13 77671946 77671946 + Missense_Mutation SNP T T C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 13 77671946 77671946 T C SNP MYCBP2 ENST00000407578 human ensembl 69_37n -1 known missense c.9343 p.I3115V 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 195 0 0.00 129 106 44.92 - - - NACA 0 genome.wustl.edu 37 12 57118242 57118242 + Missense_Mutation SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 12 57118242 57118242 C T SNP NACA ENST00000454682 human ensembl 69_37n -1 known missense c.64 p.E22K 1.000 NULL pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA HGNC ENSG00000196531 32 0 0.00 18 9 33.33 - - - NBPF9 0 genome.wustl.edu 37 1 144827878 144827879 + In_Frame_Ins INS - - AGG TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 1 144827878 144827879 - AGG INS NBPF9 ENST00000375552 human ensembl 69_37n +1 known in_frame_ins c.1757_1758 p.587in_frame_insG 0.025:0.025 NULL pfam_NBPF_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NBPF9 HGNC ENSG00000168614 9 0 0.00 32 5 13.51 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 126 0 0.00 72 30 29.41 - - - PIP5K1C 0 genome.wustl.edu 37 19 3656491 3656491 + Missense_Mutation SNP T T C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 19 3656491 3656491 T C SNP PIP5K1C ENST00000537021 human ensembl 69_37n -1 known missense c.533 p.Y178C 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 9 0 0.00 6 6 50.00 - - - POGK 0 genome.wustl.edu 37 1 166810249 166810249 + Frame_Shift_Del DEL A A - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 1 166810249 166810249 A - DEL POGK ENST00000367875 human ensembl 69_37n +1 known frame_shift_del c.56 p.E20fs 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 92 0 0.00 34 38 52.78 - - - POLQ 0 genome.wustl.edu 37 3 121207309 121207309 + Missense_Mutation SNP A A G TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 3 121207309 121207309 A G SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.4469 p.L1490P 0.993 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 229 0 0.00 203 25 10.96 - - - PRICKLE3 0 genome.wustl.edu 37 X 49040116 49040117 + Frame_Shift_Del DEL GT GT - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 X 49040116 49040117 GT - DEL PRICKLE3 ENST00000536904 human ensembl 69_37n -1 known frame_shift_del c.179_178 p.T60fs 0.149:0.119 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 32 0 0.00 12 3 20.00 - - - PTCHD1 0 genome.wustl.edu 37 X 23412005 23412005 + Silent SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 X 23412005 23412005 C T SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known silent c.2370 p.A790 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 166 0 0.00 150 25 14.29 - - - RAB40C 0 genome.wustl.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 16 677579 677580 - C INS RAB40C ENST00000248139 human ensembl 69_37n +1 known frame_shift_ins c.803_804 p.Q271fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 13 0 0.00 10 3 23.08 - - - SMTNL1 0 genome.wustl.edu 37 11 57311158 57311158 + Missense_Mutation SNP C C A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 11 57311158 57311158 C A SNP SMTNL1 ENST00000457912 human ensembl 69_37n +1 known missense c.848 p.A283E 0.446 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 10 0 0.00 9 5 35.71 - - - SUFU 0 genome.wustl.edu 37 10 104356980 104356981 + Frame_Shift_Ins INS - - C TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 10 104356980 104356981 - C INS SUFU ENST00000369902 human ensembl 69_37n +1 known frame_shift_ins c.840_841 p.E282fs 0.594:1.000 pfam_SUFU_C,pirsf_Suppressor_of_fused_protein pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein - no_errors SUFU HGNC ENSG00000107882 57 0 0.00 11 3 21.43 - - - SYNCRIP 0 genome.wustl.edu 37 6 86350199 86350199 + Nonsense_Mutation SNP G G A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 6 86350199 86350199 G A SNP SYNCRIP ENST00000369622 human ensembl 69_37n -1 known nonsense c.232 p.Q78* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 220 0 0.00 195 69 26.14 - - - TCF19 0 genome.wustl.edu 37 6 31127397 31127398 + Frame_Shift_Ins INS - - A TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 6 31127397 31127398 - A INS TCF19 ENST00000376255 human ensembl 69_37n +1 known frame_shift_ins c.151_152 p.G51fs 0.800:0.937 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 10 0 0.00 11 3 21.43 - - - TPCN2 0 genome.wustl.edu 37 11 68822752 68822753 + Frame_Shift_Ins INS - - CT TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 11 68822752 68822753 - CT INS TPCN2 ENST00000294309 human ensembl 69_37n +1 known frame_shift_ins c.361_362 p.C122fs 0.999:1.000 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 52 0 0.00 38 5 11.63 - - - TRIM28 0 genome.wustl.edu 37 19 59061549 59061549 + Silent SNP C C T TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 19 59061549 59061549 C T SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known silent c.2229 p.I743 0.962 superfamily_Bromodomain,smart_Bromodomain pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 11 0 0.00 22 21 48.84 - - - UROD 0 genome.wustl.edu 37 1 45478691 45478691 + Frame_Shift_Del DEL G G - TCGA-A8-A06P-01A-11W-A019-09 TCGA-A8-A06P-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 239b3d55-c5d6-4478-9b7b-1cbad3c03c81 f8f99cc8-0355-4bf9-b26e-65603682d0f9 1 45478691 45478691 G - DEL UROD ENST00000246337 human ensembl 69_37n +1 known frame_shift_del c.133 p.E45fs 1.000 pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE - no_errors UROD HGNC ENSG00000126088 42 0 0.00 20 29 59.18 - - -